A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729601



Internal ID153267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46914582..46914633hg38UCSC Ensembl
chr22:47310478..47310529hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426276
Supporting Variants
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer